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  2. ATN1 - atrophin 1 Gene

ATN1 - atrophin 1 Gene

中文名称:萎缩蛋白 1

种属: Homo sapiens

同用名: B37; HRS; NOD; DRPLA; CHEDDA; D12S755E

基因 ID: 1822 | 基因类型: protein coding

关于 ATN1

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,924,459-6,942,321 (from NCBI)

This gene has 4 transcripts (splice variants), 191 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in ovary (RPKM 68.4), brain (RPKM 46.0) and 24 other tissues.

功能概要

Dentatorubral pallidoluysian atrophy (DRPLA) 是一种罕见的神经退行性疾病,其特征是小脑性共济失调、肌阵挛性癫痫、舞蹈手足徐动症和痴呆。该疾病与该基因内的三核苷酸重复序列 (CAG/CAA) 从 7-35 个拷贝扩展到 49-93 个拷贝有关。编码的蛋白质包括一个丝氨酸重复序列和一个交替的酸性和碱性氨基酸区域,以及可变的谷氨酰胺重复序列。可变剪接导致编码相同蛋白质的两个转录变体。[RefSeq 提供,2016 年 7 月]

Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic Amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]

ATN1 基因产物(2)

mRNA Protein Name
NM_001007026.2 NP_001007027.1 atrophin-1
NM_001940.4 NP_001931.2 atrophin-1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
9647693 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
11984006 GOA
enables transcription corepressor activity IDA
IDA: 通过直接分析推断
10973986 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
10973986 GOA
involved in neuron apoptotic process IDA
IDA: 通过直接分析推断
10085113 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nuclear matrix IDA
IDA: 通过直接分析推断
10973986 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10085113 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ATN1 蛋白结构

Atrophin-1

Atrophin-1: Atrophin-1 family (1 - 151)

Atrophin-1

Atrophin-1: Atrophin-1 family (360 - 1190)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1190 a.a.
蛋白主名 其他名称

atrophin-1

dentatorubral-pallidoluysian atrophy protein

ATN1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ATN1 P54259 PSME3 Homo sapiens P61289
Y2H Array
16713569
种属内
ATN1 P54259 PSME3 Homo sapiens P61289
Y2H
16713569
种属内
ATN1 P54259 EFEMP1 Homo sapiens Q12805
Y2H
16713569
种属内
ATN1 P54259 TRIP6 Homo sapiens Q15654
Pull Down
16713569
种属内
ATN1 P54259 TRIP6 Homo sapiens Q15654
Y2H Array
16713569
种属内
ATN1 P54259 EFEMP2 Homo sapiens O95967
Y2H
16713569
种属内
ATN1 P54259 PLEKHA5 Homo sapiens Q9HAU0
Pull Down
16713569
种属内
ATN1 P54259 PLEKHA5 Homo sapiens Q9HAU0
Y2H Array
16713569
种属内
ATN1 P54259 RERE Homo sapiens Q9P2R6
Y2H
16713569
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Dentatorubral-Pallidoluysian Atrophy

DRPLA

Naito-Oyanagi Disease

Haw River Syndrome

Myoclonic Epilepsy With Choreoathetosis

Nod

Ataxia, Chorea, Seizures, And Dementia

Dentatorubropallidoluysian Atrophy

Hrs

Naito Oyanagi Disease

Dentatorubral Pallidoluysian Atrophy

Dentatorubro-Pallidoluysian Atrophy

Myoclonic Epilepsies, Progressive

Atrophy, Pallidoluysian, Dentatorubral

Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies

CHEDDA

Spinocerebellar Ataxia 17

Spinocerebellar Ataxia Type 17

SCA17

Huntington Disease-Like 4

Hdl4

Olivopontocerebellar Atrophy V

Cerebelloparenchymal Disorder Ii

Opca5

Cpd2

Sca 17

Ataxia, Spinocerebellar, Type 17

Hereditary Ataxia

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary

Spinocerebellar Ataxia 12

Spinocerebellar Ataxia Type 12

SCA12

Ataxia, Spinocerebellar, Type 12

Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1

SCA1

Olivopontocerebellar Atrophy I

Opca1

Opca4

Menzel Type Opca

Schut-Haymaker Type Opca

Spinocerebellar Atrophy I

Opca I

Olivopontocerebellar Atrophy Iv

Opca Iv

Cerebelloparenchymal Disorder I

Cpd1

Olivopontocerebellar Atrophy 1

Cerebelloparenchymal Disorder 1

Olivopontocerebellar Atrophy 4

Spinocerebellar Atrophy 1

Type 1 Spinocerebellar Ataxia

Spinocerebellar Ataxia-1

Ataxia, Spinocerebellar, Type 1

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Early Myoclonic Encephalopathy

Myoclonic Epilepsy

Myoclonic Seizure

Epilepsies, Myoclonic

Epileptic Seizures - Myoclonic

Epileptic Seizures, Myoclonic

Myoclonia Epileptica

Myoclonic Seizure Disorder

Early Myoclonic Encephalopathy With Suppression-Bursts

Machado-Joseph Disease

SCA3

MJD

Spinocerebellar Ataxia 3

Azorean Disease

Spinocerebellar Ataxia Type 3

Spinocerebellar Atrophy

Azorean Neurologic Disease

Spinopontine Atrophy

Nigrospinodentatal Degeneration

Spinocerebellar Atrophy Iii

Spinocerebellar Atrophy Type 3

Azorean Ataxia

Azorean Disease Of The Nervous System

Machado Disease

Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

Disease, Machado-Joseph

Ataxia, Spinocerebellar

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Spinocerebellar Ataxia 35

Spinocerebellar Ataxia Type 35

SCA35

Ataxia, Spinocerebellar, Type 35

Spinal And Bulbar Muscular Atrophy, X-Linked 1

Kennedy Disease

Sbma

Spinal And Bulbar Muscular Atrophy

Kennedy'S Disease

X-Linked Spinal And Bulbar Muscular Atrophy

SMAX1

Kd

Kennedy Spinal And Bulbar Muscular Atrophy

Spinobulbar Muscular Atrophy

Bulbospinal Muscular Atrophy, X-Linked

Bulbospinal Neuronopathy, X-Linked Recessive

Xbsn

Spinal And Bulbar Muscular Atrophy Of Kennedy

Bulbospinal Muscular Atrophy

X-Linked Bulbospinal Amyotrophy

Bulbo-Spinal Atrophy, X-Linked

Spinal Bulbar Muscular Atrophy

X-Linked Bulbo-Spinal Atrophy

X-Linked Spinal Bulbar Muscular Atrophy

X-Linked Bsma

X-Linked Bulbospinal Muscular Atrophy

Spinal And Bulbar Muscular Atrophy X-Linked 1

Bulbospinal Muscular Atrophy X-Linked

Bulbospinal Neuronopathy X-Linked Recessive

Kennedy Disease)

Kennedy Syndrome

Atrophy, Muscular, Spinal And Bulbar, Kennedy Type

Atrophy, Muscular, Spinobulbar

Bulbospinal Neuronopathy

Myoclonus Epilepsy

Epilepsies, Myoclonic

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

Spinocerebellar Ataxia 45

SCA45

Spinocerebellar Ataxia Type 45

Holoprosencephaly 5

HPE5

Holoprosencephaly-5

Holoprosencephaly, Type 5

Huntington Disease-Like 1

HDL1

Huntington-Like Neurodegenerative Disorder 1

Hln1

Huntington'S Disease-Like 1

Early-Onset Prion Disease With Prominent Psychiatric Features

Huntington-Like Neurodegenerative Disorder, Autosomal Dominant

Prion Disease, Early-Onset, With Prominent Psychiatric Features

Autosomal Dominant Huntington-Like Neurodegenerative Disorder

Huntington Disease-Like, Type 1

Huntington Disease-Like 2

HDL2

Huntington'S Disease-Like 2

Huntington Disease-Like, Type 2

Dystonia 12

DYT12

Rdp

Generalized Dystonia

Dystonia-12

Rapid-Onset Dystonia-Parkinsonism

Familial Dystonia

Dystonia Musculorum Deformans

Dystonic Disorders

Idiopathic Familial Dystonia

Dystonia-Parkinsonism, Rapid-Onset

Fragments Of Torsion Dystonia

Dyt-Atp1a3

Rapid-Onset Dystonia Parkinsonism

Rodp

Dystonia, Type 12

Dystonia 3, Torsion, X-Linked

Idiopathic Non-Familial Dystonia

Symptomatic Torsion Dystonia

Dystonia Disorders

Progressive Myoclonus Epilepsy

Pme

Progressive Myoclonic Epilepsy

Myoclonic Epilepsies, Progressive

Unverricht-Lundborg Syndrome

Choreatic Disease

Chorea

Hereditary Chorea

Spinocerebellar Ataxia 6

Spinocerebellar Ataxia Type 6

SCA6

Type 6 Spinocerebellar Ataxia

Spinocerebellar Ataxia-6

Ataxia, Spinocerebellar, Type 6

Spinocerebellar Ataxia 10

Spinocerebellar Ataxia Type 10

SCA10

Spinocerebellar Ataxia-10

Ataxia, Spinocerebellar, Type 10

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy

Bafme

Benign Adult Familial Myoclonic Epilepsy

Fame

Familial Cortical Myoclonic Tremor And Epilepsy

Fcmte

Adcme

Autosomal Dominant Cortical Myoclonus And Epilepsy

Fam

Epilepsy, Myoclonic, Familial Adult

Epilepsy, Myoclonic, Benign Adult Familial, Type 2

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Felis catus ATN1 VGNC VGNC:60011
Bos taurus ATN1 VGNC VGNC:26269
Mus musculus ATN1 MGD MGI:104725
Rattus norvegicus ATN1 RGD RGD:61832
Macaca mulatta ATN1 VGNC VGNC:70157
Canis familiaris ATN1 VGNC VGNC:38234